Canonical Allele Identifier: CA10626441

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 360734
• ClinVar RCV Id: RCV000269982 ; RCV000369349 ; RCV003430939
• dbSNP Id: rs553127513
• gnomAD v2: 7-75931908-G-T
• gnomAD v3: 7-76302591-G-T
• gnomAD v4: 7-76302591-G-T
• MyVariant Identifiers: chr7:g.75931908G>T (hg19) ; chr7:g.76302591G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302591G>T , CM000669.2:g.76302591G>T	GRCh38
NC_000007.13:g.75931908G>T , CM000669.1:g.75931908G>T	GRCh37
NC_000007.12:g.75769844G>T	NCBI36
NG_008995.1:g.5034G>T , LRG_248:g.5034G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.6:c.-122G>T	ENSP00000248553.6:n.-122G>T
NM_001540.3:c.-122G>T , LRG_248t1:c.-122G>T	NP_001531.1:n.-122G>T
NM_001540.4:c.-122G>T	NP_001531.1:n.-122G>T